Impact of rare disease genes on neural development and function

Rare disease genes, though individually uncommon, collectively account for a substantial share of neurodevelopmental disorders, and each one offers a distinct and often underappreciated window into how the nervous system is built and maintained. These genes contribute to neural development and maturation at every stage of the process, from initial tissue patterning and progenitor proliferation through to the acquisition of mature cellular and circuit properties. Understanding how disruption of a single rare disease gene can cascade into complex developmental and cognitive phenotypes offers valuable insight into the biological basis of disorders such as autism, ADHD, and other neurocognitive symptoms that may arise due to altered gene function.This Research Topic invites a broad spectrum of articles, reviews, and mini reviews that delve into unique rare disease genes involved in neural development and/or maturation. This collection welcomes all tenets of neural development, from initial tissue patterning and proliferation to mature cellular properties, and we encourage contributions spanning model systems, human genetics, and mechanistic studies alike. Through this collection, we aim to showcase the significance of these rare disease genes and gain insight into the diverse roles they play in shaping complex developmental disorders, bringing together perspectives that might not otherwise appear side by side.We seek to compile works highlighting the distinct roles rare disease genes contribute to these processes. Themes of interest include, but are not limited to:- Rare disease gene involvement in early neural tissue patterning and progenitor proliferation- Contributions to neuronal migration, differentiation, and maturation- Roles in synapse formation and mature cellular or circuit properties- Impact on features of neurodevelopmental disorders, including autism and ADHD- Genetic and molecular mechanisms linking rare variants to broader neurodevelopmental phenotypesOther neural development scenarios caused by rare disease genes not listed above, which will also be considered. We welcome Original Research, Review, and Mini Review article types. Topic editors: Daniel Vogt, Abigail Myers Source: https://www.frontiersin.org/research-topics/84703/impact-of-rare-disease-genes-on-neural-development-and-function